Gene Symbol | BUB1 |
Entrez Gene ID | 699 |
Full Name | BUB1 mitotic checkpoint serine/threonine kinase |
Synonyms | BUB1A,BUB1L,hBUB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | Colorectal cancer with chromosomal instability, somatic (3) |